| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000278 | Retrognathia | |
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| HP:0000505 | Impaired vision | |
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| HP:0000648 | Optic atrophy | |
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| HP:0001123 | Visual field defects | |
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| HP:0001258 | Spastic paraplegia | |
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| HP:0001298 | Encephalopathy | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| HP:0003287 | Abnormality of mitochondrial metabolism | |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0003677 | Slow progression | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
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